Canonical Allele Identifier: CA393729142

Gene: RLBP1

Linked Data

• dbSNP Id: rs1478285840
• gnomAD v3: 15-89211823-C-T
• gnomAD v4: 15-89211823-C-T
• MyVariant Identifiers: chr15:g.89755054C>T (hg19) ; chr15:g.89211823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211823C>T , CM000677.2:g.89211823C>T	GRCh38
NC_000015.9:g.89755054C>T , CM000677.1:g.89755054C>T	GRCh37
NC_000015.8:g.87556058C>T	NCBI36
NG_008116.1:g.14869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.604G>A MANE Select	ENSP00000268125.5:p.Glu202Lys
ENST00000268125.9:c.604G>A	ENSP00000268125.5:p.Glu202Lys
ENST00000563254.1:c.21G>A
ENST00000567787.1:c.*182G>A	ENSP00000457251.1:n.*182G>A
NM_000326.4:c.604G>A	NP_000317.1:p.Glu202Lys
XM_011521870.1:c.604G>A	XP_011520172.1:p.Glu202Lys
XM_011521871.1:c.529G>A	XP_011520173.1:p.Glu177Lys
XM_011521872.1:c.529G>A	XP_011520174.1:p.Glu177Lys
XM_011521870.2:c.604G>A	XP_011520172.1:p.Glu202Lys
XM_017022460.1:c.631G>A	XP_016877949.1:p.Glu211Lys
NM_000326.5:c.604G>A MANE Select	NP_000317.1:p.Glu202Lys